title: Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome.
abstract: Angelman syndrome (AS) is characterised by severe developmental delay, severe speech impairment, gait ataxia and/or limb tremor and a unique behavioural phenotype. The diagnosis of AS is based on a combination of clinical features and molecular genetic testing. Currently, molecular genetic testing (methylation analysis and UBE3A sequence analysis) identifies anomalies in about 90% of individuals. The aetiology of the remaining 10% is still unknown. We report a novel deletion encompassing the exons 5-12 of the UBE3A gene in a girl with AS, identified by MLPA (Multiplex Ligation-dependent Probe Amplification), which was not detected by the conventional diagnostic protocol. We propose that copy number analysis of the UBE3A gene should be considered in individuals whose clinical examination is strongly suggestive of AS, after more common mechanisms have been excluded.
authors.affiliation: Department of Clinical Genetics, Coimbra Paediatrics Hospital, Coimbra 3000-076, Portugal. ana.beleza@chc.min-saude.pt
authors.forename: Ana
authors.initials: A
authors.lastname: Beleza-Meireles
authors.forename: Rita
authors.initials: R
authors.lastname: Cerqueira
authors.forename: Sérgio B
authors.initials: SB
authors.lastname: Sousa
authors.forename: Aida
authors.initials: A
authors.lastname: Palmeiro
authors.forename: Lina
authors.initials: L
authors.lastname: Ramos
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D055028:Comparative Genomic Hybridization; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases